Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2022 May;61(3):532-534. doi: 10.1016/j.tjog.2022.03.037.
We present a false-positive result at non-invasive prenatal testing (NIPT) due to maternal 17p12 microduplication.
A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Simultaneous array comparative genomic hybridization (aCGH) revealed the result of a 1.3-Mb duplication of 17p12 or arr [GRCh37] 17p12 (14,111,772-15,442,066) × 3 encompassing four Online Mendelian Inheritance in Man (OMIM) genes of COX10, HS3ST3B1, PMP22 and TEKT3. The mother did not have any neurologic problems. The parents were phenotypically normal. aCGH analysis of maternal blood revealed that the mother carried the same 17p12 microduplication. Two years ago, NIPT analysis during her first pregnancy revealed abnormality of chromosome 17 with 17p11.2p12 duplication. However, subsequent aCGH analysis at amniocentesis revealed no genomic imbalance in the fetus, and no further examination of the parental bloods was made. During this pregnancy, prenatal ultrasound was unremarkable, and the parents decided to continue the pregnancy.
A false-positive result at NIPT should raise a suspicion of maternal genomic imbalance.
我们报告了一例因母体 17p12 微重复而导致的非侵入性产前检测（NIPT）假阳性结果。
一名 37 岁，孕 2 产 1 的女性，因高龄接受了羊膜穿刺术，妊娠 19 周。羊膜穿刺术显示核型为 46,XY。同时进行的 array comparative genomic hybridization（aCGH）显示 17p12 存在 1.3Mb 的重复，即 [GRCh37]17p12（14,111,772-15,442,066）×3，包含四个在线孟德尔遗传数据库（OMIM）基因 COX10、HS3ST3B1、PMP22 和 TEKT3。母亲没有任何神经问题。父母表型正常。母亲血液的 aCGH 分析显示她携带相同的 17p12 微重复。两年前，她第一次怀孕时的 NIPT 分析显示 17 号染色体异常，17p11.2p12 重复。然而，随后的羊膜穿刺术 aCGH 分析显示胎儿没有基因组失衡，也没有对父母的血液进行进一步检查。在本次妊娠中，产前超声无异常，父母决定继续妊娠。
NIPT 的假阳性结果应提示母体基因组失衡。
